Complex genomic rearrangements: an underestimated cause of rare diseases.
Trends Genet
; 38(11): 1134-1146, 2022 11.
Article
em En
| MEDLINE
| ID: mdl-35820967
ABSTRACT
Complex genomic rearrangements (CGRs) are known contributors to disease but are often missed during routine genetic screening. Identifying CGRs requires (i) identifying copy number variants (CNVs) concurrently with inversions, (ii) phasing multiple breakpoint junctions incis, as well as (iii) detecting and resolving structural variants (SVs) within repeats. We demonstrate how combining cytogenetics and new sequencing methodologies is being successfully applied to gain insights into the genomic architecture of CGRs. In addition, we review CGR patterns and molecular features revealed by studying constitutional genomic disorders. These data offer invaluable lessons to individuals interested in investigating CGRs, evaluating their clinical relevance and frequency, as well as assessing their impact(s) on rare genetic diseases.
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Base de dados:
MEDLINE
Assunto principal:
Genoma Humano
/
Doenças Raras
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article